Answer:
Detecting homologous recombination deficiency (HRD) scores in tumor-only samples (without matched normal) can be challenging, but there are several software packages and pipelines that have been developed to address this. Here are some options you might consider:
-
HRDetect:
- Description: HRDetect is a machine learning-based tool that integrates multiple types of genomic data to predict HRD status.
- Input: Whole-genome sequencing (WGS) data.
- Link: HRDetect GitHub
-
ScarHRD:
- Description: ScarHRD is a tool that quantifies HRD based on the presence of specific genomic scars, such as loss of heterozygosity (LOH), telomeric allelic imbalance (TAI), and large-scale state transitions (LST).
- Input: Copy number variation (CNV) data from WGS or whole-exome sequencing (WES).
- Link: ScarHRD GitHub
-
CHORD:
- Description: CHORD is a classifier that uses mutational signatures to predict HRD status. It can work with both WGS and WES data.
- Input: Somatic mutation data.
- Link: CHORD GitHub
-
SigMA:
- Description: SigMA (Signature Mutational Analysis) is a tool that can identify mutational signatures associated with HRD from WES data.
- Input: Somatic mutation data.
- Link: SigMA GitHub
-
LOHHLA:
- Description: LOHHLA (Loss Of Heterozygosity in Human Leukocyte Antigen) is a tool that can be used to detect LOH events, which are indicative of HRD.
- Input: WES or targeted sequencing data.
- Link: LOHHLA GitHub
-
FACETS:
- Description: FACETS (Fraction and Allele-Specific Copy Number Estimates from Tumor Sequencing) is a tool for allele-specific copy number analysis, which can be used to infer HRD.
- Input: WES or targeted sequencing data.
- Link: FACETS GitHub
-
Battenberg:
- Description: Battenberg is a tool for allele-specific copy number analysis and can be used to detect LOH and other genomic alterations indicative of HRD.
- Input: WGS data.
- Link: Battenberg GitHub
-
HRDscore:
- Description: HRDscore is a tool that calculates an HRD score based on the presence of LOH, TAI, and LST.
- Input: CNV data from WGS or WES.
- Link: HRDscore GitHub
When using these tools, it's important to carefully read the documentation and understand the input requirements and limitations. Additionally, some tools may